The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype

Author:

De Jonghe P.,Timmerman V.,Ceuterick C.,Nelis E.,De Vriendt E.,Löfgren A.,Vercruyssen A.,Verellen C.,Van Maldergem L.,Martin J.-J.,Van Broeckhoven C.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Reference28 articles.

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2. Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot–Marie–Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics1993; 17: 370–5.

3. De Jonghe P, Timmerman V, Nelis E, Martin J-J, Van Broeckhoven C. Charcot–Marie–Tooth disease and related peripheral neuropathies. J Periph Nerv Syst1997; 2: 370–87.

4. Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors: Peripheral neuropathy, 3rd ed. Philadelphia: W.B. Saunders; 1993a. p. 1065–93.

5. Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. 3rd ed. Philadelphia: W.B. Saunders; 1993b. p. 1094–136.

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